Podcasts about prader willi

We are all born into a house of stories. That is something Dan, Jacob's dad, believes deeply, and it shapes everything about how he has carried his grief. Dan is a professional storyteller by trade, and when his son Jacob was born fragile and uncertain in the NICU, not expected to survive, Dan did the only thing he knew how to do. He sat by his side and talked. He told stories, sang songs, even recited Chaucer in Middle English, because he believed his voice could be a beacon, something Jacob's soul could navigate by to find his way into the world. He called the experience talking him in. Jacob lived. He was eventually diagnosed with Prader-Willi syndrome, a condition Dan explains in simple terms as leaving someone always, organically hungry, with locks needed on the fridge not because Jacob was sneaky, but because his body simply could not register being full. He grew up big, sometimes teased, slow to make friends, but open to the world in a way Dan deeply admired. His great-grandmother told him once that he was born for a purpose, and Jacob carried that with him quietly for the rest of his life. Years later, working as a beloved school crossing guard in Toronto, he helped save a toddler who had run into oncoming traffic, and told his dad afterward, through tears, maybe that is why I chose to live. Jacob died at 26, eight days after a car accident, with enough time for his mother and brother to make it to his bedside. Dan calls those final eight days talking him out. He believes there is a kind of circle in that. Talked in at the beginning of his life. Talked out at the end of it. In the two years that followed, Dan did something he had spent years encouraging other people to do, first as a storyteller in residence at Baycrest Health Sciences, and later in palliative care settings. He became Jacob's story keeper. He gathered every scrap of Jacob he could find, poems, apology letters, nicknamed lists of fishing rods and fedoras, all of Jacob's own words and ways, and wove them into a book written entirely in Jacob's imagined voice. It is called I Am Full: Stories for Jacob, and a major publisher offered to print it if Dan would write about his own experience instead. He said no. The book was never meant to be about him. It was meant to be about Jacob. Dan's belief is simple and profound. We are each other's story keepers. Not just parents and children, but everyone who has ever loved someone and chosen to remember them out loud. He shares the story of an Italian woman in a palliative care unit, encouraged to collect her dying mother's proverbs in her final days, who became her mother's story keeper in the process. He shares the old expression that a person is not truly dead until they are forgotten. This podcast exists, in many ways, to do exactly what Dan describes. We tell stories. We collect stories. We keep them, together, so that no child is ever just a name on a headstone, but a whole, full, remembered life. If this conversation moves you, Dan's book I Am Full: Stories for Jacob is available through Signature Editions, a small publisher out of Winnipeg and can be purchased on Amazon.

Send us Fan MailSubscribe and unleash your inner science goblin. We see you. We respect it.What happens when your DNA makes a typo?In this episode of Wildly Curious, Katy Reiss and Laura Fawks Lapole dive into the strange, fascinating world of genetic mutations—the tiny changes in DNA that can shape evolution, alter proteins, create disease, or sometimes do absolutely nothing at all. From harmless genetic quirks to serious inherited disorders, this episode breaks down some of the most important mutation types in a way that actually makes sense.

Good morning from Pharma Daily: the podcast that brings you the most important developments in the pharmaceutical and biotech world. Today, we explore a series of transformative events shaping the industry landscape, from scientific breakthroughs to regulatory shifts and strategic realignments. Eisai's progress with its Alzheimer's treatment, Leqembi, marks a significant milestone in addressing one of the most challenging neurological disorders. With a sales forecast of $900 million, this development underscores the growing demand for effective Alzheimer's treatments. Eisai's partnership with Biogen plays a crucial role in this context, aiming to provide a solution to a disease that has long eluded effective therapeutic intervention. This collaboration highlights the intricate interplay between scientific innovation and strategic alliances in tackling complex health challenges. Biogen's recent data on Alzheimer's disease advances our understanding of neurodegenerative disorders by reinforcing the tau hypothesis alongside longstanding amyloid-beta research. This insight opens new avenues for therapeutic interventions targeting tau proteins—a potentially pivotal shift given prior limited success with amyloid-centric approaches. Denali Therapeutics may benefit from this paradigm shift thanks to its proprietary technology that enhances central nervous system drug delivery—a crucial factor for effective tau-targeting therapies. Concurrently, organizational restructuring at Novartis reflects broader industry trends. As companies increasingly focus on optimizing operations and honing in on core therapeutic areas, Novartis's strategy to streamline its biomedical research arm could potentially impact innovation timelines and resource allocation. This move is indicative of a wider industry shift aimed at enhancing research efficiency and maintaining competitive edges in a rapidly evolving market. Regulatory updates continue to be pivotal, as seen with the U.S. Supreme Court's decision to temporarily restore telehealth access to the abortion pill mifepristone. This ruling not only underscores the intersection between healthcare access and legal frameworks but also highlights potential implications for patient accessibility to medications across the U.S. Meanwhile, AstraZeneca's Imfinzi received swift regulatory endorsement from NICE for perioperative use in stomach cancer just 17 days post UK approval. Such rapid endorsements are crucial in expanding treatment options and improving patient outcomes, particularly in oncology where timely interventions can be life-saving. In market dynamics, Novo Nordisk's Wegovy pill has experienced its first decline in total prescriptions, as tracked by Fierce Pharma through their new oral GLP-1 tracker. This development suggests shifting preferences among clinicians and patients within the competitive landscape of weight management therapies. It points to an environment where continuous innovation and adaptation are necessary to maintain market presence. Biopharmaceutical pipelines are increasingly dominated by biologics, presenting both opportunities and challenges. A report highlights manufacturing complexities that pose hurdles for new product launches, emphasizing the industry's shift from small molecules to biologically-derived therapies. As demand grows, advancements in manufacturing technologies and processes become essential to meeting these needs effectively. Aardvark Therapeutics' decision to unblind its phase 3 Prader-Willi syndrome study data following an FDA-imposed hold illustrates the regulatory hurdles that can occur during drug development. These holds often delay critical data analyses but also present opportunities for reevaluating trial strategies, ensuring that patient safety remains paramount. Aardvark Therapeutics faces regulatory challenges as its Prader-Willi syndrome trials encounter an FDA-imposed hold due to cardiac safety concerns. These developments highlight both scientific promise and the stringent safety standards essential within drug development processes. Technological innovation is reshaping drug discovery efforts through targeted protein degradation—a method allowing researchers to address previously "undruggable" targets. This approach signifies a potential revolution in developing novel therapeutic modalities across various diseases, highlighting the industry's capacity for groundbreaking advancements. On the policy front, bipartisan lawmakers have reintroduced legislation aimed at preventing pharmacy benefit managers from owning retail pharmacies. This legislation seeks to address conflicts of interest that could impact drug pricing and access, underscoring the ongoing scrutiny on practices affecting healthcare costs. In oncology, Genmab's recalibration of its antibody-drug conjugate pipeline signals competitive pressures within this innovative space where differentiation is key to maintaining market leadership. Similarly, Create Medicines' entry into CAR T-cell therapies—backed by substantial funding—reflects ongoing investment in breakthrough cancer treatments while balancing immediate clinical opportunities with strategic long-term goals. Amidst these transformative developments are broader industry trends involving employment shifts and funding dynamics. Despite workforce reductions like those at Takeda as part of its transformation strategy, there remains strong momentum within sectors such as California's vibrant biotech scene—illustrating resilience amid economic pressures. These stories exemplify an industry characterized by transformation driven by scientific insights into disease mechanisms coupled with regulatory vigilance ensuring patient safety remains paramount throughout all stages—from discovery through commercialization—ultimately striving towards improved patient care outcomes addressing various unmet medical needs worldwide.Support the show

Let us know what you think about this episode and share it with a friend!We talk with Jessica Patay about the moment a diagnosis changes a family's life and what “bravery” looks like when caregiving becomes a daily reality. We share how community support can protect caregiver mental health and why her book, "Suddenly Brave Together" aims to meet moms right at the defining moment. • founding We Are Brave Together to reduce isolation for caregiving mothers • defining bravery as showing up, facing grief and advocating • naming altered motherhood and the hidden roles moms take on • using a private online group, connection circles, retreats, podcast and books for support • explaining the “suddenly” shift after diagnosis and the learning curve that follows • describing Prader-Willi syndrome, food security and anxiety-driven behaviors • navigating adulthood after school services end and the shortage of supports • shifting from "why me?" to "what now?" through validation and community • building confidence through doing, writing, networking and fundraising • funding retreats and scholarships through donors, grants and sponsors Find her website at WeAreBraveTogether.orgYou can order this book and previous books directly from their website. And if anyone out there listening has any ideas about how to get this book  into the hands of NICUs and pediatricians and geneticists, reach out to Jessica at WeAreBraveTogether.org Subscribe to the Pivotal People newsletter for new episodes, giveaways and more: https://stephanienelson.com/newsletter/ Learn more at StephanieNelson.comFollow us on Instagram  @stephanie_nelson_cmFollow us on Facebook at CouponMomOrder Stephanie's book Imagine More: Do What You Love, Discover Your Potential 

  In March of 2026, the International Olympic Committee released a new policy on the Protection of the Female (Women's) Category in Olympic Sports. This new policy is applicable to the 2028 Olympic Games to be hosted in Los Angeles and onward and is not being applied retroactively or to any grassroots or recreational sports programs.  But what does this new policy address and how what should we think about this. I have a longtime friend and mentor as my guest today who will help us work through this topic.    Connect with The Host! Subscribe to This Podcast Now!     The ultimate success for every podcaster – is FEEDBACK! Be sure to take just a few minutes to tell the hosts of this podcast what YOU think over at Apple Podcasts! It takes only a few minutes but helps the hosts of this program pave the way to future greatness! Not an Apple Podcasts user? No problem! Be sure to check out any of the other many growing podcast directories online to find this and many other podcasts via The Podcaster Matrix!     Housekeeping -- Get the whole story about Dr. Mark and his launch into this program, by listing to his "101" episode that'll get you educated, caught up and in tune with the Doctor that's in the podcast house! Listen Now! -- Interested in being a Guest on The Pediatric Sports Medicine Podcast? Connect with Mark today!   Links from this Episode: -- Dr. Mark Halstead: On the Web -- On X  -- David Allen, MD Profile https://www.uwhealth.org/providers/david-b-allen-md Publications/Milestones https://www.pediatrics.wisc.edu/staff/allen-david/ IOC New 2026 Policy on Protection of Female (Women) Category in Olympic Sports https://www.olympics.com/ioc/news/international-olympic-committee-announces-new-policy-on-the-protection-of-the-female-women-s-category-in-olympic-sport Rupert JL. Genitals to genes: the history and biology of gender verification in the Olympics. Can Bull Med Hist. 2011;28(2):339-65. doi: 10.3138/cbmh.28.2.339. PMID: 22164600. https://pubmed.ncbi.nlm.nih.gov/22164600/   Calls to the Audience Inside this Episode: -- Be sure to interact with the host, send detailed feedback via our customized form and connect via ALL of our social media platforms! Do that over here now! -- Interested in being a guest inside The Pediatric Sports Medicine Podcast with Dr. Mark? Tell us now! -- Ready to share your business, organization or efforts message with Dr. Mark's focused audience? Let's have a chat! -- Do you have feedback you'd like to share with Dr. Mark from this episode? Share YOUR perspective!   Be an Advertiser/Sponsor for This Program!     Tell Us What You Think! Feedback is the cornerstone and engine of all great podcast. Be sure to chime in with your thoughts, perspective sand more.  Share your insight and experiences with Dr. Mark by clicking here!   The Host of this Program: Mark Halstead:  Dr. Mark Halstead received his medical degree from the University of Wisconsin Medical School. He stayed at the University of Wisconsin for his pediatric residency, followed by a year as the chief resident. Following residency, he completed a pediatric and adult sports medicine fellowship at Vanderbilt University. He has been an elected member to the American Academy of Pediatrics (AAP) Council on Sports Medicine and Fitness and the Board of Directors of the American Medical Society for Sports Medicine (AMSSM). He has served as a team physician or medical consultant to numerous high schools, Vanderbilt University, Belmont University, Washington University, St. Louis Cardinals, St. Louis Blues, St. Louis Athletica, and St. Louis Rams. He serves and has served on many local, regional and national committees as an advisor for sports medicine and concussions. Dr. Halstead is a national recognized expert in sport-related concussions and pediatric sports medicine. — Dr. Mark Halstead on Facebook — Dr. Mark Halstead on LinkedIn — Dr. Mark Halstead on X — Learn Why The Pediatric Sports Medicine Podcast Exists...   The Guest Featured Inside this Program: David Allen David B. Allen, MD, is Professor of Pediatrics at the University of Wisconsin School of Medicine and Public Health, and Head of Endocrinology and Diabetes and Director of the Endocrinology and Diabetes Fellowship Program at the University of Wisconsin American Family Children's Hospital in Madison.  He graduated from Stanford University with honors in humanities and biology, obtained his MD degree from Duke University School of Medicine, and completed pediatric residency, chief residency, and a fellowship training at the University of Wisconsin. He is the recipient of numerous awards for excellence in education, clinical care, and academic leadership, most notably the ACGME Parker Palmer “Courage to Teach” national award, the University of Wisconsin Presidential Physician Leadership Award, the Wisconsin Medical Alumni Association Career Citation Award, the University of Wisconsin Clinical Educator Award, and the Judson Van Wyk Prize for outstanding career achievement given by the Pediatric Endocrine Society. Dr. Allen served as Director of the UW Pediatric Residency Program from 1993-2007 and as Program Director of the UW Pediatric Endocrinology and Diabetes Fellowship since 2003.  On the national level, Dr. Allen was elected Director (2000-2003) and then President (2010-2011) of the Pediatric Endocrine Society.  He served as Chair of the Wisconsin Endocrine Newborn Screening Committee from 1991-2015, and as member of the American Board of Pediatrics sub-board for Pediatric Endocrinology 2010-2015.  He is an editorial reviewer for numerous peer-reviewed journals, served as editorial board member for the Journal of Clinical Endocrinology and Metabolism and Associate Editor for the International Journal of Pediatric Endocrinology.  On the international level, Dr. Allen was selected to Chair the Organizing Committee for and then serve as President of the 2017 10th International Meeting of Pediatric Endocrinology. His research interests have included innovative use of human growth hormone to restore normal growth and increase physical function in children with glucocorticoid-induced growth suppression and with Prader-Willi syndrome. He has also led studies of childhood adipose organ development and dysfunction, improving fitness and insulin sensitivity to prevent diabetes onset in children, improving newborn screening programs for endocrine disorders, and preventing and assessing systemic effects of inhaled corticosteroids.  Throughout his career, Dr. Allen has also spoken and published extensively about issues of ethics and cost-effectiveness in the treatment of disorders of childhood growth.  He has written more than 240 articles, letters, monographs, and book chapters, edited 4 textbooks, and has presented at more than 180 regional, national, and international meetings. Dr. Allen's personal interests include improvisational jazz piano and providing philanthropic music for local charities and missions.  He is an avid cyclist, skier, and runner (two-time US Olympic Marathon trials qualifier with a PR of 2 hours 17 minutes) and most importantly, a doting grandfather.

Merlin G. Butler, MD, Medical Geneticist and Professor, Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, and one of the pioneers in Prader–Willi syndrome research, discusses the clinical features of this very rare disease and the critical importance of early identification. Prader–Willi syndrome was first reported in 1956, and deletions in chromosome 15 were first identified in the 1980s. Dr. Butler has been working on the genetics of Prader–Willi syndrome since that decade. Dr. Butler said that Prader–Willi syndrome was the first example of a disorder caused by “genetic imprinting,” in which it matters whether genes are contributed by the mother or the father. In 70% of the cases of this disorder, the father's contribution is missing from chromosome 15q13, and 25% of cases are the result of both copies of chromosome 15 being from the mother (referred to as “disomy”). Babies born with this genetic anomaly have severe hypotonia, and they have no interest in sucking or feeding. They often have decreased muscle mass and energy. “These infants look like they have a major problem at birth,” stated Dr. Butler. They need to be tube-fed. Once a genetic cause is suspected, Prader-Willi syndrome is quickly diagnosed; it is a very rare disease that also has very unique features. Pediatricians may see only one of these patients every 10 years. Therefore, according to Dr. Butler, “it is the parents who oftentimes make the diagnosis, through what they have seen on the Internet, prompting genetic testing.” Despite their problems with feeding in the neonatal period, infants with Prader–Willi syndrome will begin to gain an interest in feeding by around age 2 to 3 years. By age 6 years, they develop hyperphasia. “Once their appetite is turned on,” he said, “it is never off.” Uncontrolled, this results in obesity and life-threatening conditions, such as type 2 diabetes and stomach rupture.Early identification is key, and determining the genetic subtype is extremely important to building a multidisciplinary care team. There are seven different genetic subtypes, which can impact outcomes and management. Typically, the care team will include the medical geneticist and genetic counselors, endocrinologists (to manage the use of growth hormone and diabetes-related treatment), dietitians to manage and monitor caloric intake, mental health experts to address behavioral issues and the risk of self-injury, gastroenterologists, and potentially even sleep medicine professionals. The specialists comprising the care team will change over the patient's lifespan; occupational therapy and speech therapy may well be required as the patient ages. The treatment of hyperphagia associated with Prader–Willi syndrome, the number 1 issue, is a particularly active area of research. The idea is to avoid the onset of obesity, which can lead to most of the comorbidities and complications.  

Episode 47 - Michael Tan and Dr. Jennifer Miller - Comprehensive Nutrition Management in Prader-Willi SyndromeIn this episode of Nutrition Pearls: the Podcast, co-hosts Bailey Koch and Nikki Misner speak with Michael Tan and Dr. Jennifer Miller about optimizing nutrition care in Prader-Willi syndrome from infancy to adolescence. Michael is a Registered Dietitian and Certified Diabetes Educator in the Division of Pediatric Endocrinology at the University of Florida College of Medicine. He specializes in the nutritional management of Prader-Willi Syndrome, pediatric obesity, and also works with those with type 1 and type 2 diabetes. Dr. Jennifer Miller is Professor in the Division of Pediatric Endocrinology at the University of Florida. Dr. Miller has worked with individuals with hypothalamic causes of obesity for over 20 years and has spent her career working to understand the etiology of hyperphagia and find possible treatments for individuals with Prader-Willi syndrome, hypothalamic obesity, and Schaff-Yang Syndrome. She currently follows over 600 patients with Prader-Willi syndrome from around the world. Dr. Miller's research efforts are focused on developing clinical treatment trials for individuals of all ages with hypothalamic obesity. Together they have worked with families of children with Prader-Willi Syndrome since 2018. Nutrition Pearls is supported by an educational grant from Mead Johnson Nutrition.References: Miller JL, Lynn CH, Driscoll DC, et al. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A. 2011;155A(5):1040-1049. doi:10.1002/ajmg.a.33951Miller JL, Tan M. Dietary Management for Adolescents with Prader-Willi Syndrome. Adolesc Health Med Ther. 2020;11:113-118. Published 2020 Aug 25. doi:10.2147/AHMT.S214893Produced by: Corey IrwinNASPGHAN - Council for Pediatric Nutrition Professionalscpnp@naspghan.org

A pathway proposed by FDA to cut the time it takes biopharma companies to get to first-in-human trials is more ambitious than similar policies in Australia, China and the U.K. On the latest BioCentury This Week podcast, BioCentury's analysts assess the proposal, as well as a concession for the biopharma industry on first-in-human studies in PDUFA reauthorization negotiations with FDA.The analysts also discuss the latest pair of billion-dollar biotech deals: Gilead's $3.2 billion takeout of antibody-drug conjugate company Tubulis and the acquisition of Soleno by Neurocrine for $2.9 billion for its Prader-Willi asset. Finally, BioCentury's analysts discuss the new $6.3 billion Blackstone Life Sciences fund and the €1 billion vehicle unveiled last week by European VC Jeito Capital. This episode of the BioCentury This Week podcast was brought to you by IQVIA Biotech.View full story: https://www.biocentury.com/article/659127#FDA #FirstInHuman #BiotechMergers #BiotechInvesting #LifeSciencesVC00:01 - Sponsor Message: IQVIA Biotech03:24 - FDA First-in-Human11:44 - America First PDUFA Policy17:43 - Gilead Buying Tubulis23:41 - Blackstone's New Fund28:37 - Jeito Capital30:44 - Parker InstituteTo submit a question to BioCentury's editors, email the BioCentury This Week team at podcasts@biocentury.com.Reach us by sending a text

Schaff-Yang syndrome is an ultra-rare neurodevelopmental disorder that is closely related to but distinct from Prader-Willi syndrome. It typically presents from birth with poor muscle tone, feeding and breathing difficulties, and later evolves into a broad spectrum of more severe developmental delay, intellectual disability, autism, endocrine dysfunction, and disruptive sleep patterns. The Foundation for Prader-Willi Research's Genesis initiative is leveraging antisense oligonucleotide technology to knock down the toxic truncated protein underlying Schaff-Yang, orchestrating collaborations with academic scientists, contract research organizations, and patient families to move from cell and animal models toward first-in-human studies. We spoke to Theresa Strong, director of research programs for the Foundation for Prader-Willi Research, about the challenges of delivering therapy to the hypothalamus, navigating ultra-rare drug economics, and how patient-led organizations can drive sophisticated translational programs for conditions that affect only a few hundred people worldwide.

Hello Brave Friends! This is an Ask Us Anything episode in which YOU, the listener, get to write or call in and, you guessed it, ask us anything.In this Ask Us Anything episode, #245, we're responding to the question:“Hi Dr. Zoe, Susanna and Jessica, I was wondering if you could shed light on us parents who will NOT BE EMPTY-NESTERS? I am struggling right now because I see friends who are so free and spontaneous and honestly, I am envious. As you guys always say, the grief buttons are getting pushed again. Thanks.”In this conversation, Susanna Peace Lovell, Dr. Zoe Shaw, and Jessica Patay talk honestly about what it means to be a “forever nester”—a caregiver who may never experience the traditional empty nest. They define what empty nest and forever nest can look like, while also acknowledging that it's not always a simple either/or; there are many unknowns, in-between seasons, and times when adult children launch and then return home.Together, they name the complicated mix of emotions that arise when friends are traveling, retiring, or enjoying spontaneous freedom, while caregiving parents are still managing high-support needs, sleep deprivation, food vigilance, and constant responsibility. Jessica and Zoe share candidly about life with children who have Prader-Willi syndrome and the relentless focus on food and safety; Susanna reflects on lifelong rigidity, shame, and a longing to be more spontaneous. They speak to grief as cyclical, normal, and deeply human—especially when future dreams like travel, retirement, or hands-on grandparenting feel uncertain or out of reach.The hosts also offer hope and reframes: the power of naming longings out loud, seeking pockets of “empty nest cosplay” (brief moments of freedom and joy), practicing radical acceptance of the life you're living, and being intentional about creating memories and glimmers of joy right now. They remind listeners that wanting freedom, rest, and space is not selfish—it's human—and encourage caregivers to seek support when resentment or grief feels overwhelming.Keep the questions coming—we're here to support you. Whether you're a parent to a child with complex medical, developmental, or mental health needs, or someone supporting a caregiving family, we would love to hear from you. We see you, and we love you.Leave us a message here.Find more information about LicBrave Together is the podcast for We are Brave Together, a not-for-profit organization based in the USA. The heart of We Are Brave Together is to strengthen, encourage, inspire and validate all moms of children with disabilities and other needs in their unique journeys. JOIN the international community of We Are Brave Together here. Donate to support all of We Are Brave Together's programs and offerings here. Can't get enough of the Brave Together Podcast? Follow us on Instagram , Facebook and Youtube. Feel free to contact Jessica Patay via email: jpatay@wearebravetogether.org If you have any topic requests or if you would like to share a story, leave us a message here. Please leave a review and rating today! We thank you in advance! Disclaimer

Today, we're joined by Professor Matthew Wood, a leading figure in neuroscience and RNA-based therapeutics. He is Professor of Neuroscience at the University of Oxford, Deputy Head of the Medical Sciences Division, and Director of both the MDUK Oxford Neuromuscular Centre and the Oxford-Harrington Rare Disease Centre, a groundbreaking partnership between the University of Oxford and Harrington Discovery Institute dedicated to accelerating therapies for rare genetic diseases affecting millions worldwide.In today's episode we discuss his vision for making antisense oligonucleotides (or ASOs) and gene editing more modular, more scalable, and faster by collaborating with regulators, scientists, and patient groups to bring hope to those with rare neuromuscular and genetic conditions.With rare disease day coming up just next week, I hope you enjoy the insights that Professor Wood shares on the future of the fight against rare disease.01:23 – Meet Matthew Wood07:26 – The Oxford-Harrington Rare Disease Centre10:33 – Collaborations, philanthropy, and industry partnerships13:55 – Key challenges in rare disease therapy development20:00 – Modular and scalable platforms for ASOs28:08 – Scaling gene editing like CRISPR for rare diseases32:38 – Role of AI and computational tools in acceleration37:28 – Future breakthroughs in rare disease treatments44:07 – Advice for new researchers in the fieldInterested in being a sponsor of an episode of our podcast? Discover how you can get involved here! Stay updated by subscribing to our newsletterTo dive deeper into the topic: Prader Willi syndrome: five much-anticipated therapies poised for approval First-ever approval for Barth Syndrome treatment: what does this mean for ultra-rare disease therapeutics? When rare diseases are not so rare after all: A closer look at where and why this happens

This episode covers Prader-Willi syndrome.Written notes can be found at https://zerotofinals.com/paediatrics/genetics/prader-willi/Questions can be found at https://members.zerotofinals.com/Books can be found at https://zerotofinals.com/books/The audio in the episode was expertly edited by Harry Watchman.

Dr. Tien Lee, Founder and CEO of Aardvark Therapeutics, draws a clear distinction between appetite and hunger and the implications for treating metabolic conditions and managing weight. The Aardvark lead drug candidate, an oral bitter taste receptor agonist designed to activate the gut-brain connection to turn off hunger, is showing effectiveness in treating Prader-Willi Syndrome and general obesity.  There are also signs that this drug could be effective for those using GLP-1s to avoid nausea and prevent rebound weight gain experienced after discontinuing GLP-1 drugs. Tien explains, "That difference between hunger and appetite is the central thesis for our entire company, and your brain actually regulates how much you should eat. And it's driven by both appetite and hunger. So appetites like the carrot, and hunger is like the stick. Appetite is what you feel when you really enjoy a certain food, like ice cream or cake. And the appeal and the deliciousness of that food is a reward that your brain chases. Hunger is the feeling that you get when you have fasted for a prolonged period of time, and it really bothers you, and you feel real discomfort from not eating. And then at that point, food quality matters less, and you just want to escape that negative sensation. And we believe a lot of the current drugs are good at reducing appetite, but they don't so much address hunger like what our approach is pursuing."  "In obesity, there's probably a combination of both appetite and hunger at play. And they're both important. In fact, your body has both appetite and hunger that are regulated. And when we eat food, our gut releases a number of gut hormones that help tamp down and give us satiety for both appetite and hunger. However, there are certain conditions where hunger is the predominant issue. And with the disease that is our lead indication is a condition called Prader-Willi syndrome. It's a rare genetic disorder that affects about one out of 15,000 live births. And patients with this condition have this unabated, unrelenting hunger that they feel that really starts to manifest when they're about four or seven years old. And then characteristically, patients will even feel compelled to eat garbage to the point of stomach rupture if unregulated with their food access. So it's a very debilitating condition with a lot of suffering for the patients and their families."   "There are actually quite a number of new revelations in the scientific literature, and there's a greater appreciation of gut-brain signaling. So there are actually as many neurons in your gut as there are in your spinal cord, almost as many neurons as in the cat brain. And there's a greater appreciation of a two-way communication between your brain and the gut. So the vagus nerve is the largest nerve in your body, and there's actually a two-way communication between the gut and the brain. About 80% to 90% of the signal is actually from the gut to the brain. And even the drugs that people know currently, the Ozempic and the Zepbound drugs, are working through this gut path hormone. But naturally, a lot of the signals actually come from the gut to the brain through this vagus nerve conduction." #AardvarkTherapeutics #Hunger #Appetite #PraderWilliSyndrome #PWS #Hyperphagia #RareDiseases #BiotechInnovation #ObesityTreatment #GutBrainAxis #TasteReceptors #ClinicalTrials #Therapeutics #MetabolicHealth #PharmaceuticalInnovation  aardvarktherapeutics.com Listen to the podcast here

Dr. Tien Lee, Founder and CEO of Aardvark Therapeutics, draws a clear distinction between appetite and hunger and the implications for treating metabolic conditions and managing weight. The Aardvark lead drug candidate, an oral bitter taste receptor agonist designed to activate the gut-brain connection to turn off hunger, is showing effectiveness in treating Prader-Willi Syndrome and general obesity.  There are also signs that this drug could be effective for those using GLP-1s to avoid nausea and prevent rebound weight gain experienced after discontinuing GLP-1 drugs. Tien explains, "That difference between hunger and appetite is the central thesis for our entire company, and your brain actually regulates how much you should eat. And it's driven by both appetite and hunger. So appetites like the carrot, and hunger is like the stick. Appetite is what you feel when you really enjoy a certain food, like ice cream or cake. And the appeal and the deliciousness of that food is a reward that your brain chases. Hunger is the feeling that you get when you have fasted for a prolonged period of time, and it really bothers you, and you feel real discomfort from not eating. And then at that point, food quality matters less, and you just want to escape that negative sensation. And we believe a lot of the current drugs are good at reducing appetite, but they don't so much address hunger like what our approach is pursuing."  "In obesity, there's probably a combination of both appetite and hunger at play. And they're both important. In fact, your body has both appetite and hunger that are regulated. And when we eat food, our gut releases a number of gut hormones that help tamp down and give us satiety for both appetite and hunger. However, there are certain conditions where hunger is the predominant issue. And with the disease that is our lead indication is a condition called Prader-Willi syndrome. It's a rare genetic disorder that affects about one out of 15,000 live births. And patients with this condition have this unabated, unrelenting hunger that they feel that really starts to manifest when they're about four or seven years old. And then characteristically, patients will even feel compelled to eat garbage to the point of stomach rupture if unregulated with their food access. So it's a very debilitating condition with a lot of suffering for the patients and their families."   "There are actually quite a number of new revelations in the scientific literature, and there's a greater appreciation of gut-brain signaling. So there are actually as many neurons in your gut as there are in your spinal cord, almost as many neurons as in the cat brain. And there's a greater appreciation of a two-way communication between your brain and the gut. So the vagus nerve is the largest nerve in your body, and there's actually a two-way communication between the gut and the brain. About 80% to 90% of the signal is actually from the gut to the brain. And even the drugs that people know currently, the Ozempic and the Zepbound drugs, are working through this gut path hormone. But naturally, a lot of the signals actually come from the gut to the brain through this vagus nerve conduction." #AardvarkTherapeutics #Hunger #Appetite #PraderWilliSyndrome #PWS #Hyperphagia #RareDiseases #BiotechInnovation #ObesityTreatment #GutBrainAxis #TasteReceptors #ClinicalTrials #Therapeutics #MetabolicHealth #PharmaceuticalInnovation  aardvarktherapeutics.com Download the transcript here

Babadan gelen 15. kromozom genlerinin çalışmaması nedeniyle oluşan, çocuklukta aşırı yeme ve obeziteyle seyreden bu genetik rahatsızlıkla ilgili her şey. (Bu bölümde tarihteki rezillikleri de bulacaksınız.)

Food isn't just fuel and obesity isn't just willpower. We sat down with bariatric surgeon Dr. Mark Vierra to unpack what weight-loss surgery really changes, why genetics and hormones can overpower the best intentions, and how a careful program decides who needs a scalpel and who needs a different plan. From GLP‑1 surges and ghrelin drops to PYY's “brake,” we walk through how surgery reshapes appetite signals and why even modest weight loss can dramatically improve diabetes and cardiovascular risk.The conversation goes beyond the operating room. Dr. Vierra explains why five of six referrals don't get surgery, how he and his partner analyze food diaries, depression, and daily constraints, and when medications like bupropion or GLP‑1s make more sense. We explore binge patterns, the messy reality of predicting who will do well after weight loss surgery, and the tough calls around patients who've been told their BMI is destiny when their labs and function say otherwise. The story shifts sharply when we talk alcohol: after gastric bypass, blood alcohol rises faster and stays higher, which raises the risk of alcohol use disorder over time. We share practical ways to screen motives for drinking, plan safeguards with families, and use craving meds thoughtfully.What ties it all together is respect for biology and the person in front of us. Genetics like MC4R variants and syndromes such as Prader–Willi can drive lifelong hyperphagia; ultra‑processed foods and liquid calories amplify the problem; stigma keeps people from care. We push for a different bias—against soda and engineered foods, not against people—and for care that follows patients long after the incisions heal. If you want a grounded, humane guide to obesity treatment, this conversation delivers clarity without blame.If this resonated, follow the show, share it with a friend, and leave a review so others can find it. Your support helps us keep building informed, stigma‑free conversations about health.To contact Dr. Grover: ammadeeasy@fastmail.com

Tonix Pharmaceuticals Holdings CEO Dr. Seth Lederman shared with Steve Darling from Proactive to announce a major milestone for the company's rare disease pipeline: the advancement of its TNX-2900 program for the treatment of Prader-Willi syndrome into a Phase 2 clinical trial. TNX-2900 is a proprietary magnesium-potentiated intranasal oxytocin formulation designed to improve receptor binding and reduce inconsistencies in receptor activity often observed with standard oxytocin dosing. The program has received both Orphan Drug Designation and Rare Pediatric Disease Designation from the U.S. Food and Drug Administration (FDA). Importantly, these designations could make Tonix eligible for a transferable Priority Review Voucher (PRV) if the therapy is successfully approved, a potential asset of significant strategic and financial value. Dr. Lederman explained that the FDA has already cleared Tonix's Investigational New Drug (IND) application, enabling the initiation of Phase 2 development. The planned trial will be a randomized, double-blind, placebo-controlled, parallel-design study, evaluating the safety, tolerability, and efficacy of TNX-2900 in boys and girls with PWS aged 8 to 17.5 years. Eligible participants will be randomized to receive 12 weeks of treatment with TNX-2900 at one of three dose levels, or placebo, in a 1:1:1:1 ratio. The primary efficacy endpoint will be the change from baseline in the Hyperphagia Questionnaire for Clinical Trials (HQ-CT), a validated tool widely used to measure hyperphagia severity in PWS. Secondary endpoints will include assessments of behavior, caregiver burden, quality of life, and additional safety outcomes. Prader-Willi syndrome is a rare genetic disorder and the leading cause of life-threatening childhood obesity, affecting an estimated 1 in 10,000 to 1 in 30,000 births. Infants often present with poor muscle tone and feeding difficulties, while older children and adolescents develop hyperphagia (insatiable hunger), behavioral challenges, and severe obesity with associated metabolic complications. Current interventions remain limited, difficult to sustain, and often inadequate to manage the condition effectively. With FDA clearance, multiple regulatory designations, and a well-defined clinical pathway, Tonix is now positioned to advance TNX-2900 toward becoming a potential first-in-class treatment for PWS. #proactiveinvestors #tonixpharmaceuticalsholdingcorp #nasdaq #tnxp #Biotech #MPOXVaccine #Smallpox #TNX801 #VaccineDevelopment #ClinicalTrials #PharmaceuticalNews #MedicalResearch #WHO #GlobalHealth #InfectiousDiseases #Biopharma #ProactiveInvestors

On this week's episode, Sam Fazeli, Eric Schmidt, PaulMatteis, Brian Skorney, and Brad Loncar dive into what was a positive week for biotech, marked by M&A, offerings, and compelling clinical data, spotlighting Pfizer's acquisition of Metsera. The conversation shifts to data, starting with UniQure's three-year Huntington's disease gene therapy results and Acadia's Phase 3 results in Prader-Willi syndrome, and the implications for Soleno and Rhythm Therapeutics. Next, the co-hosts overview Stealth Bio's approval in Barth syndrome and signs of the FDA's flexibility. Cidara Therapeutics' influenza prophylaxis antibody and enthusiasm around the Phase 3 results are also discussed. Additionally, positive data from MBX in chronic hypoparathyroidism and PepGen in DM1 further showcase biotech's rebound, with positive stock reactions. The episode closes with a look at what's happening at the FDA (some flexibility in rare diseases, CRLs), the latest MAHA press conference – discussion around Tylenol & autism specifically -- and public trust in science. *This episode aired on September 26, 2025. 

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma e Biotech world.Uniqure's gene therapy for Huntington's disease, AMT-130, has shown promising results in a 3-year study, slowing disease progression by 75%. If approved, it would be the first genetic treatment for Huntington's. Meanwhile, Acadia Pharmaceuticals has discontinued a Prader-Willi drug after a late-stage failure. Biogen received an unexpected FDA rejection for a high dose of Spinraza, and J&J received a warning letter for violations at a Korean production plant. In the competitive bioscience industry, credentials from Biotility can help advance careers. Sanofi is investing in rare disease and neuro innovation, while Lilly is expanding manufacturing facilities. Scholar Rock faced setbacks with its spinal muscular atrophy drug.Chinese biotech has rapidly risen to become a global powerhouse, with companies making significant strides in oncology and other areas. However, despite this success, Chinese biotechs are facing financial challenges similar to those in the US. The influx of interest from big pharma has been a lifeline for these companies as they strive to prove themselves on the global stage. Akeso, a rising star in Chinese biotech, has developed potential blockbuster drugs and is valued highly in the market. However, President Trump's potential executive order restricting drug licensing deals in China could pose a threat to the progress made by Chinese biotechs. Despite these challenges, Chinese companies continue to perform well, with significant investments and partnerships driving growth in the industry. Pfizer's CEO emphasized the need for the US to focus on improving and competing with China rather than trying to slow them down. The future of Chinese biotech remains uncertain in the face of geopolitical tensions, but the industry continues to innovate and attract investment from pharmaceutical companies worldwide.

Prader-Willi syndrome is a rare and complex genetic condition, the hallmark of which is hyperphagia, an intense and insatiable hunger. Hunger and appetite, though, are different things, particularly from a biological perspective. Aardvark Therapeutics is developing an experimental therapy to treat Prader-Willi syndrome by targeting hunger as opposed to appetite. We spoke to Tien Lee, CEO of Aardvark Therapeutics, about Prader-Willi syndrome, the company's experimental therapy to treat the condition, and why it may have broader applications in other forms of obesity.

Save 20% on all Nuzest Products WORLDWIDE with the code MIKKIPEDIA at www.nuzest.co.nz, www.nuzest.com.au or www.nuzest.comThis week on the podcast, Mikki speaks to Dane Fuller — sports dietitian, athlete, and founder of Fuller Foods. Dane has a background in exercise science, nutrition, and behavioural change, and he brings all of that together in his mission to make nutrition simple, effective, and sustainable.In this conversation, Dane shares his journey from growing up in a fish and chip shop to becoming a champion lightweight rower and performance nutritionist. We talk about the lessons he learned through sport, why breakfast became such a cornerstone of his nutrition philosophy, and how that one simple habit helped not just thousands of clients—but also his own son, who lives with Prader-Willi syndrome.We also dig into the origins of Fuller Foods and the challenges of turning a personal solution into a product that helps others. This is a great chat about food, behaviour, business, and the real-life impact of getting the basics right.https://eatfullerfood.com/Dane Fuller is a New Zealand-based Nutritionist, Exercise Scientist, former Lecturer, Author, and founder of Fuller Foods. With a background in competitive rowing and a passion for performance, Dane has dedicated his career to helping people fuel better, move more, and live healthier.He designed the EatFit program—an evidence-based health and fitness system so effective it was licensed by a global multinational for their online TV series.  Dane's coaching helps clients improve energy, manage weight, and enhance sports performance.Dane has been featured across TV, radio, and print media, and has worked with celebrities, athletes, and everyday individuals alike. His work is grounded in human nutrition, exercise science, and behaviour change principles—including neuro-linguistic programming (NLP).Dane is also the founder of Fuller Foods, a line of fast, protein-rich oats designed to support satiety and sustained energy. Dane's mission is to make real, effective nutrition accessible for all. Curranz Supplement: Use code MIKKIPEDIA to get 20% off your first order - go to www.curranz.co.nz  or www.curranz.co.uk to order yours Contact Mikki:https://mikkiwilliden.com/https://www.facebook.com/mikkiwillidennutritionhttps://www.instagram.com/mikkiwilliden/https://linktr.ee/mikkiwilliden

Jennifer and her mother Helen explain how being born Prader Willi syndrome has had a lifelong impact.  One challenge is that Jennifer is continually hungry, and so limiting access to food is needed at all times. Send us a text

Hello Brave Friends! Welcome to today's story episode, #221. These are true stories from a moment in the life of a caregiving parent. We hear a crafted story, and then have a conversation with our guests that goes deeper into their experience.In this heartfelt conversation, Chris and Jessica Patay reflect on their journey as parents of a child with Prader-Willi syndrome. They discuss the challenges and joys of parenting, the importance of community support, and the lessons learned from their son Ryan. Chris shares insights on fatherhood, the shifting expectations of parenting, and the value of maintaining hope and engagement in the face of adversity. The conversation emphasizes the need for self-care and the beauty found in the unique traits of children with special needs.Find our first book from We Are Brave Together here.Find full episodes from Season 7 and clips from Season 8 on Youtube here.Brave Together Parenting is the podcast for We are Brave Together, a not-for-profit organization based in the USA. The heart of We Are Brave Together is to strengthen, encourage, inspire and validate all moms of children with disabilities and other needs in their unique journeys. JOIN the international community of We Are Brave Together here. Donate to our Retreats and Respite Scholarships here. Donate to keep this podcast going here. Can't get enough of the Brave Together Podcast? Follow us on Instagram or on Facebook. Feel free to contact Jessica Patay via email: jpatay@wearebravetogether.org If you have any topic requests or if you would like to share a story, leave us a message here. Please leave a review and rating today! We thank you in advance! Disclaimer

One of the hallmarks of the rare genetic disorder Prader-Willi syndrome is hyperphagia, an insatiable desire to eat. Households with someone with Prader-Willi syndrome often have to take measures to restrict access to food, such as locking refrigerators, pantries, and trash cans. They must also deal with the complex behavioral challenges associated with the condition. Earlier this year, Soleno Therapeutics won approval for VykatXR, the first FDA-approved therapy for treating hyperphagia. We spoke to Anish Bhatnagar, CEO of Soleno Therapeutics, about Prader-Willi syndrome, its therapy to treat the condition, and the significance of having a medicine that can address hyperphagia associated with the disorder.

Hello Brave Friends! Welcome to today's expert episode, #219. These are conversations with experts in fields relevant to caregiving parents. On this episode we have Tammie Penta PD, a retired Police Sergeant and Brave Mom to an adult son with Prader-Willi syndrome who trains police departments all over the country to interact safely with adults living with PWS and other intellectual disabilities.In this conversation, Jessica Patay and Tammie Penta PD, discuss the importance of preparing families with developmental disabilities for interactions with law enforcement. Tammie shares her personal experiences and insights on how to effectively communicate with law enforcement, engage with neighbors, and prepare for a potential crisis. The discussion emphasizes the need for proactive measures, such as creating a blue form for quick reference during emergencies, and fostering relationships with local law enforcement to ensure better outcomes for individuals with disabilities.Retired Sergeant Tammie Penta worked for the Tucson Police Department where she was a police officer for over 27 years, with the last 20 as a sergeant. Tammie was a detective sergeant for the Elder Abuse Task Force, which included investigations of vulnerable adults, the Child Abuse/Homicide Unit, Special Investigations and Aggravated Assault Unit. Additionally she was the training supervisor responsible for new officers coming into law enforcement and completed her career as the administrative supervisor for the largest division in the city.Find more information about Tammie Penta PD here.Download Blue Forms here and here.This episode was generously sponsored by Pediatric Minds.Find our first book from We Are Brave Together here.Find full episodes from Season 7 and clips from Season 8 on Youtube here.Brave Together Parenting is the podcast for We are Brave Together, a not-for-profit organization based in the USA. The heart of We Are Brave Together is to strengthen, encourage, inspire and validate all moms of children with disabilities and other needs in their unique journeys. JOIN the international community of We Are Brave Together here. Donate to our Retreats and Respite Scholarships here. Donate to keep this podcast going here. Can't get enough of the Brave Together Podcast? Follow us on Instagram or on Facebook. Feel free to contact Jessica Patay via email: jpatay@wearebravetogether.org If you have any topic requests or if you would like to share a story, leave us a message here. Please leave a review and rating today! We thank you in advance! Disclaimer

Jessica Patay is a full-time caregiver to her son with Prader-Willi syndrome—and the founder of We Are Brave Together, a global support network for caregiving moms. In this episode, she joins Heather to talk about the emotional toll of rare parenting, why self-care isn't a luxury, and what it really takes to show up for yourself when you're constantly showing up for everyone else. They get honest about burnout, identity loss, and the power of community when you feel like you're running on empty. If you've ever felt like you're disappearing inside the role of caregiver, this conversation is for you. FIND JESS:

On this week's episode, Chris Garabedian, Tim Opler, Bruce Booth, and Sam Fazeli discuss the current investor mood, a PIPEs retrospective, and the contraction of new startups. The episode opens with a conversation on the biotech market updates, which have been driven by economic uncertainty and shifting investor sentiment, noting that macroeconomic factors continue to weigh on performance of biotech stocks in the market. Regulatory discussion centers on recent HHS personnel cuts, and the confirmations of FDA and NIH leaders. The conversation shifts to data with Soleno Therapeutics' Prader-Willi drug approval, oncology readouts, and presentations at the European Lung Cancer Congress 2025. Tim Opler also discussed findings from a recent aging report. On the global front, China's role in biotech continues to expand, with an increasing share of large pharma molecules originating from the country. The episode concludes with a look at obesity drug deals, including a major partnership with a China-based biotech and a preclinical asset with a novel mechanism targeting satiety and energy expenditure. *This episode aired on March 28, 2025.

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma e Biotech world. The Department of Health and Human Services, led by Secretary Robert F. Kennedy Jr., has revealed intentions to reduce 10,000 positions and restructure departments. The appointment of vaccine critic David Geier to investigate vaccine safety within the CDC has also been announced. Soleno has recently obtained FDA approval for a medication designed to address hyperphagia in Prader-Willi syndrome patients. Meanwhile, Johnson & Johnson's combination therapy for lung cancer has displayed encouraging outcomes. A power struggle at Aurion has resulted in Alcon taking control, amidst allegations of impeding Aurion's IPO plans. Opportunities in the biopharma industry are available at the United States Pharmacopeia, alongside updates on biopharma layoffs and industry advancements. That's all for today's episode. Stay tuned for more essential news from the world of Pharma and Biotech. Thank you for listening.

In this episode of IDD Health Matters, Dr. Craig Escudé sits down with Chris Helfrich, a dedicated nurse and an integral member of the Developmental Disabilities Nurses Association, live from the DDNA annual conference in New Orleans. Chris shares her unexpected journey into the field, her experiences navigating healthcare for individuals with developmental disabilities, and the critical need for better education and training for healthcare providers. Chris also discusses her groundbreaking work in Illinois, where she has been instrumental in opening specialized community-based homes for individuals with Prader-Willi syndrome. She highlights the challenges of healthcare disparities, the importance of structured environments for individuals with unique needs, and the inspiring impact of these initiatives on both individuals and staff. Tune in for an insightful conversation about the evolving landscape of healthcare for people with IDD, the strides being made in nursing education, and what the future holds for better, more inclusive healthcare solutions.

In this episode of IDD Health Matters, Dr. Craig Escudé sits down with Chris Helfrich, a dedicated nurse and an integral member of the Developmental Disabilities Nurses Association, live from the DDNA annual conference in New Orleans. Chris shares her unexpected journey into the field, her experiences navigating healthcare for individuals with developmental disabilities, and the critical need for better education and training for healthcare providers. Chris also discusses her groundbreaking work in Illinois, where she has been instrumental in opening specialized community-based homes for individuals with Prader-Willi syndrome. She highlights the challenges of healthcare disparities, the importance of structured environments for individuals with unique needs, and the inspiring impact of these initiatives on both individuals and staff. Tune in for an insightful conversation about the evolving landscape of healthcare for people with IDD, the strides being made in nursing education, and what the future holds for better, more inclusive healthcare solutions.

In this heartfelt episode, Katie Webb, a world-renowned wedding planner, wife, and mother of two children with disabilities shares her incredible journey of adoption and parenting. Katie opens up about her two sons' diagnoses—one with Down syndrome and the other with Prader-Willi syndrome—and what daily life looks like as she navigates the challenges and rewards of raising children with special needs. She discusses the constant battle for services and support from the city and state while shedding light on the beauty and growth her children bring into her life. Tune in for an eye-opening conversation about love, resilience, and the disability community. Learn more about your ad choices. Visit megaphone.fm/adchoices

Send us a textCan genetics alone determine your battle with obesity, or is there more to the story? Join us as we crack open the complex world of obesity, unearthing the myriad factors that influence weight gain and appetite regulation. From family history to rare genetic mutations like Prader-Willi and Bardet-Biedl syndromes, we explore how your genetic makeup can predispose you to obesity, but isn't the only piece of the puzzle. Listen as we dissect how environmental influences and lifestyle choices can either exacerbate or mitigate these genetic risks, allowing for a more nuanced understanding of why some people face greater challenges with weight than others.We also venture into the intriguing territory of epigenetics, exploring how external factors can alter gene expression, thus impacting weight and metabolic processes. Discover how mindful decisions—like a balanced diet, consistent physical activity, and effective stress management—can potentially counteract genetic predispositions. This episode aims to provide you with a comprehensive grasp of obesity's multifaceted nature, equipping you with the knowledge to make informed, empowered decisions about your health and well-being. Tune in for a conversation that promises to redefine your perspective on genetics and obesity. Support the showAre you feeling stressed, tired, or Metabolism imbalanced? Take advantage of our free mindful steps to help improve your well-being.ENJOY ONE OF our Books Mindful Ways Health Wealth & Life https://stan.store/MindfullyintegrativeAsk Us for help with Medical Weight Loss & Improve Metabolic HealthWww.mindfullyintegrative.com Let's Work on Your Optimal Wellness Journey!Sign Up For Discovery Callhttps://stan.store/MindfullyintegrativeEnjoy the Show and Get Bonus Episodes Subscribe For Just $4 a month Enjoy one of Our Mindful Book Collections HERE Check Out our YouTube Channel Join Our Mindfully Integrative Private Facebook CommunityGet 15% off Pharmaceutical Grade...

Jessica Patay, a reformed perfectionist and dedicated caregiving mother, provides compassionate support and resources to other moms caring for children with disabilities or unique needs. In this episode of the Happy Healthy Caregiver podcast, Jessica shares how she manages and supports her son Ryan, who has a rare genetic condition called Prader-Willi syndrome, while maintaining her own well-being. We discussed helpful and unhelpful language from friends and family and explore the various ways caregiving mothers can find support through Jessica's community, book, podcast, and retreats. Jessica also highlights the difference between self-care and self-comfort. Show notes with product and resource links: https://bit.ly/HHCPod192 Receive the podcast in your email here: http://bit.ly/2G4qvBv Order a copy of Elizabeth's book Just for You: a Daily Self Care Journal: http://bit.ly/HHCjournal For podcast sponsorship opportunities contact Elizabeth: https://happyhealthycaregiver.com/contact-us/ The Happy Healthy Caregiver podcast is part of the Whole Care Network. Rate and Review the podcast: https://bit.ly/HHCPODREVIEW

Jessica Patay, a reformed perfectionist and dedicated caregiving mother, provides compassionate support and resources to other moms caring for children with disabilities or unique needs. In this episode of the Happy Healthy Caregiver podcast, Jessica shares how she manages and supports her son Ryan, who has a rare genetic condition called Prader-Willi syndrome, while maintaining her own well-being. We discussed helpful and unhelpful language from friends and family and explore the various ways caregiving mothers can find support through Jessica's community, book, podcast, and retreats. Jessica also highlights the difference between self-care and self-comfort. Show notes with product and resource links: https://bit.ly/HHCPod192 Receive the podcast in your email here: http://bit.ly/2G4qvBv Order a copy of Elizabeth's book Just for You: a Daily Self Care Journal: http://bit.ly/HHCjournal For podcast sponsorship opportunities contact Elizabeth: https://happyhealthycaregiver.com/contact-us/ The Happy Healthy Caregiver podcast is part of the Whole Care Network. Rate and Review the podcast: https://bit.ly/HHCPODREVIEW

Don't miss this encouraging and inspiring episode featuring Jessica Patay, founder of We Are Brave Together. As the mother of a child with Prader-Willi disease (https://www.fpwr.org/), Jessica founded We Are Brave Together in 2017 to be a safe place for women with children with any issue or diagnosis. We Are Brave Together is a place for women to feel seen, heard, validated, and understood through their podcast, retreats, and support groups, known as connection circles.  There are presently over 20 connection groups worldwide that support their mission to preserve and protect the mental health of caregiving moms. Jessica openly shares the challenges of being a caregiving mom and the perseverance, tenacity, dedication, sacrifice, and love caregiving moms exhibit. Jessica has also compiled caregiving mom stories into a book, Becoming Brave Together (https://www.amazon.com/Becoming-Brave-Together-Extraordinary-Caregiving-ebook/dp/B0D123VCRS). Jessica wants moms to pick up this book and feel seen, heard, and validated. She also hopes the book will help others open their eyes to the challenges caregivers face.

In this episode of the Brain & Life podcast, co-host Dr. Katy Peters is joined by Jessica Patay, mother, caregiver, and founder of the nonprofit We Are Brave Together. Jessica discusser her son's diagnosis with a rare genetic neurologic condition called Prader-Willi Syndrome and how it led her to found an organization whose mission is to preserve and protect the mental health of caregiving moms of disabled and neurodiverse children. Dr. Peters is then joined by Dr. Emily De Los Reyes, attending pediatric neurologist at Nationwide Children's and Professor of Clinical Pediatrics and Neurology at The Ohio State University College of Medicine. They discuss exactly what Prader-Willi syndrome is, how it's diagnosed and treated, and what the future looks like for patients and their families.   Additional Resources We Are Brave Together How Parents Advocate for Their Children with Rare Diseases These Parents are Giving Their Teenager a Life of Adventure Despite Rett Syndrome Sibling Caregivers Share Rewards and Challenges   Other Brain & Life Episodes on this Topic Resiliency and Caregiving with Janet Fanaki Journalist Richard Engel on Parenting a Child with Rett Syndrome Gavin McHugh is Building an Acting Career and a Community with Cerebral Palsy   We want to hear from you! Have a question or want to hear a topic featured on the Brain & Life Podcast? ·       Record a voicemail at 612-928-6206 ·       Email us at BLpodcast@brainandlife.org   Social Media:   Guests: Jessica Patay @wearebravetogether; Dr. De Los Reyes @nationwidekids Hosts: Dr. Daniel Correa @neurodrcorrea; Dr. Katy Peters @KatyPetersMDPhD

Send us a Text Message.I am back this week with a lovely conversation with the wonderful Jessica Patay, Founder & Executive Director of the non profit We Are Brave Together. In this episode we talk about the importance of respite as a caregiver, her experience as a mother and caregiver to her son, Ryan, who is living with Prader-Willi syndrome, how her non profit came to be, as well as the new anthology they recently released called "Becoming Brave Together," along with so much more. Happy listening, friends!Buy Becoming Brave Together on amazonLearn more about We Are Brave TogetherFollow them on instagramGet your FREE Positive Affirmations for the Medical Parent PDF here!https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/

Bob and Kim sit down with Jessica Patay, who recently published 'Becoming Brave Together'. In this episode, Jessica opens up about her journey as a first-time author, sharing the heartfelt stories of caregiving moms. She shares her personal story of raising a child with Prader-Willi syndrome and the inspiration to compile an anthology from 22 writers, all caregiving moms, sharing stories about extreme and extraordinary caregiving of their children. Explore the challenges she faced, the lessons learned, and the profound impact her book aims to make. Connect with Jessica: @wearebravetogetherCheck out Jessica's book: https://www.wearebravetogether.org/book Connect with Bob: @bobgoff Connect with Kim: @kimberly.stuart.writes---Learn more about Writing Coaching with Bob and Kim: bobgoff.com/writing-coachingCome join Bob and Kim at the Oaks for a Writer's Workshop. Wherever you are in the writing process they are ready to help you figure out your next steps! Visit bobgoff.com/events to learn more.

Bob and Kim sit down with Jessica Patay, who recently published 'Becoming Brave Together'. In this episode, Jessica opens up about her journey as a first-time author, sharing the heartfelt stories of caregiving moms. She shares her personal story of raising a child with Prader-Willi syndrome and the inspiration to compile an anthology from 22 writers, all caregiving moms, sharing stories about extreme and extraordinary caregiving of their children. Explore the challenges she faced, the lessons learned, and the profound impact her book aims to make. Connect with Jessica: @wearebravetogetherCheck out Jessica's book: https://www.wearebravetogether.org/book Connect with Bob: @bobgoff Connect with Kim: @kimberly.stuart.writes---Learn more about Writing Coaching with Bob and Kim: bobgoff.com/writing-coachingCome join Bob and Kim at the Oaks for a Writer's Workshop. Wherever you are in the writing process they are ready to help you figure out your next steps! Visit bobgoff.com/events to learn more.

Bob and Kim sit down with Jessica Patay, who recently published 'Becoming Brave Together'. In this episode, Jessica opens up about her journey as a first-time author, sharing the heartfelt stories of caregiving moms. She shares her personal story of raising a child with Prader-Willi syndrome and the inspiration to compile an anthology from 22 writers, all caregiving moms, sharing stories about extreme and extraordinary caregiving of their children. Explore the challenges she faced, the lessons learned, and the profound impact her book aims to make. Connect with Jessica: @wearebravetogetherCheck out Jessica's book: https://www.wearebravetogether.org/book Connect with Bob: @bobgoff Connect with Kim: @kimberly.stuart.writes---Learn more about Writing Coaching with Bob and Kim: bobgoff.com/writing-coachingCome join Bob and Kim at the Oaks for a Writer's Workshop. Wherever you are in the writing process they are ready to help you figure out your next steps! Visit bobgoff.com/events to learn more.

Dr. Dan interviews Jessica Patay, the Founder/Executive Director of We Are Brave Together (a supportive community for moms of children with disabilities), host of the podcast Brave Together with Jessica Patay, and author/editor of the new anthology Becoming Brave Together. Jessica Patay is mother to a 20-year-old son with Prader-Willi syndrome, a rare genetic disorder. On this episode, Dr. Dan and Jessica discuss her parenting journey, her work to create a community for mothers, and her anthology Becoming Brave Together which gathers heroic and extraordinary caregiving stories written by other mothers of children with disabilities.  Jessica is passionate about encouraging and serving caregiving moms everywhere and reminding each mother “You are not alone.”  For more information visit www.wearebravetogether.org  Email your parenting questions to Dr. Dan podcast@drdanpeters.com (we might answer on a future episode).  Follow us @parentfootprintpodcast (Instagram, Facebook) and @drdanpeters (X).  Follow @exactlyright on Instagram. Please listen, follow, rate, and review on Apple Podcasts, Spotify, or wherever you listen to podcasts. Please support our podcast by shopping our latest sponsor deals and promotions at this link: https://bit.ly/4bqTWJ2 For more information: www.exactlyrightmedia.com  www.drdanpeters.com Learn more about your ad choices. Visit megaphone.fm/adchoices

When Eliza was diagnosed with Prader-Willi syndrome, the flood of emotions from anger to isolation was overwhelming. On this episode of Parenting Impossible, join Annette as she opens up about her personal journey and the moments that shaped her path in special needs parenting. Annette welcomes Julie Foge, a fellow special needs mom and founder of the Leaning Into Love website, to share her experiences and insights. Julie and Annette cover advocating for their children amid the chaos of daily responsibilities, underscoring choosing battles and seeking support. Julie's mission, inspired by her child's rare disease and her background as a teacher, is to create a nurturing space for parents and caregivers. With her husband's medical expertise adding another to their conversation, they dive into practical tips for managing the NICU experience, from using your voice effectively to reducing decision fatigue through community support. Julie and Annette also tackle special education advocacy, offering strategies to foster productive collaboration with educators. Discover how simple tools like an “All About Me” page can help teachers understand your child's unique needs. In this episode, you will hear: The emotional rollercoaster of parenting a child with special needs Dealing with a diagnosis of Prader-Willi syndrome and feelings of isolation The importance of advocacy in navigating daily challenges  The need for support systems for both children and parents Strategies for managing a NICU stay, including effective communication with medical staff Leveraging community support to reduce decision fatigue Techniques for successful special education advocacy, nurturing collaboration with educators, and creating personalized tools like an “All About Me” page Julie's dual perspective as a teacher and a special needs mom Insights from Julie's husband's medical background with practical advice for parents Overcoming the transition from NICU to home care, dealing with decision-making, and finding local resources for ongoing support Resources from this Episode Leaning Into Love website: www.leaningintolove.com Facebook: www.facebook.com/juliefoge Instagram: www.instagram.com/juliefoge LinkedIn: www.linkedin.com/in/julie-foge-88418b30a Pinterest: www.pinterest.com/leaningintolove Follow and Review: We'd love for you to follow us if you haven't yet. Click that purple '+' in the top right corner of your Apple Podcasts app. We'd love it even more if you could drop a review or 5-star rating over on Apple Podcasts. Simply select “Ratings and Reviews” and “Write a Review” then a quick line with your favorite part of the episode. It only takes a second and it helps spread the word about the podcast. Episode Credits If you like this podcast and are thinking of creating your own, consider talking to my producer, Emerald City Productions. They helped me grow and produce the podcast you are listening to right now. Find out more at https://emeraldcitypro.com Let them know we sent you.

#160: Clint Hurdle is a former Major League Baseball player and manager. He spent 9 seasons as the Manager for the Pittsburgh Pirates. Over his tenure in Pittsburgh he led the Pirates to multiple playoff appearances. In 2013, only his third season as manager, he led the Pirates to their first winning season and playoff appearance since 1992. He also won the award for National League Manager of the Year. Prior to his time in Pittsburgh he was also the hitting coach for the Texas Rangers during the 2010 season where he helped all star players like Josh Hamilton and Michael Young, advance to the World Series. For 8 seasons he was the manager of the Colorado Rockies where he led them to their first ever NL pennant and World Series appearance. Before he stepped into managing he spent 12 seasons playing professional baseball. In 1975 he was drafted in the first round of the MLB draft, 9th overall, to the Kansas City Royals. In 1978 he was featured on the cover of Sports Illustrated as “This Years Phenom.” He played for the Kansas City Royals, Cincinnati Reds, New York Mets, & the St. Louis Cardinals. On the show Clint shares his story of grown-up, the influence of his parents, playing major league baseball, stories from his time managing the Rockies and Pirates, adapting, the importance of passion, Mudita, 3 key questions every coach and leader should ask, being a good husband and father, faith, and much more. For more on Clint, his encouraging daily emails, and his hot stove dinner fundraiser for Prader-Willi syndrome check out clinthurdle.com as well as all social platforms. We will have a link in the show notes, social media posts, and YouTube for links to Clints platforms. Enjoy the show! 

Calling all big-word fans, this one's for you! A neuroscientist and actress from a little show you may have heard of…The Big Bang Theory's Mayim Bialik joins the Lautners to discuss her journey with mental health, both in and out of the spotlight. She explains her thesis dissertation, which, (grab a dictionary), was: "Hypothalamic regulation in relation to maladaptive, obsessive-compulsive, affiliative and satiety behaviors in Prader–Willi syndrome". She then dives into her early career as a teen actor and her home life surrounded by mental illness and addiction. She and Taylor bond over being Enneagram 4s, before she highlights two key tools that have helped her mental health: identifying food triggers and somatic work. Lastly, the Lautners ask her for advice on continued success in the mental health podcast space, as she's hosted her popular podcast, Mayim Bialik's Breakdown, since 2021.  Be sure to follow Mayim @missmayim and listen to Mayim Bialik's Breakdown where ever you get your podcasts: https://linktr.ee/BialikBreakdown  Thanks to our awesome sponsor for supporting this episode!   CeraVe: To learn more about nominating a nurse who has profoundly impacted your life, visit CeraVe.com/Nurses or DAISYfoundation.org!    To email us your questions or share your story, you can reach out to lautner.thesqueezepodcast@gmail.com. Be sure to rate, review, and follow the podcast so you don't miss an episode! Plus, follow us on Instagram, @thesqueeze and personally @taylautner and @taylorlautner + on TikTok @thesqueezepodcast    To learn more from The Lemons Foundation, follow @lemonsbytay on Instagram and visit lemonsbytay.com  Learn more about your ad choices. Visit megaphone.fm/adchoices

Imagine spending years trying to get pregnant, following every protocol, and struggling through the heartache of not being able to build your family. Then, finally, after all the difficulty, you get to have two beautiful twin girls, and you think maybe, “This is it! The struggle is over!” But, because life isn’t always fair, you find out soon after that one of your twins has a life-altering rare disease. This is the story of today’s guest, Dr. Annie Kuo. She shares her journey from infertility through the diagnosis of her 15-month-old daughter, Kenzie, with Prader-Willi syndrome. She shares how her experience as a physician shaped how she navigated her daughter’s care but didn’t necessarily make the whole process easier. And she vulnerably describes what it felt like to just never catch a break, and how those experiences have shaped the way she views life today. This is one story episode you cannot miss, and a big shout out to our sponsor Functional Formularies who made this episode possible! Links: Visit the Functional Formularies website and get assistance in working with your insurance company to provide their top-tier nutrition to your tube-fed child! Join us for The Family + Friends Rare Disease Day Fundraiser and see how you can help The Rare Life continue for years to come! Follow Annie on Instagram @dranniekuo! Follow us on Instagram @the_rare_life! Donate to the podcast or Contact me about sponsoring an episode. Fill out our contact form to get a reminder about upcoming discussion meetings and the Skype link to join! Follow the Facebook page. Join the Facebook group Parents of Children with Rare Conditions. Access the transcript on the website here. And if you love this podcast, please leave us a rating or review in your favorite podcast app!

Get your seatbelt on. Jenna is a vibrant mama to Josh. She is a badass with very little filter, especially when she talks about her life's #1 passion: fighting for her son's rights and well-being. Jenna has been through so much with her son's disorder, a rare neuro-genetic disorder that occurs in one in 15,000 live births. According to the Angelman Syndrome Foundation, “symptoms and characteristics with other disorders including autism, cerebral palsy and Prader-Willi syndrome. Due to the common characteristics, misdiagnosis occurs often.” Another common symptom, which we talk about in-depth, are seizures. They suck, they're scary, and they are a part of Jenna's reality as Josh's mama. We discuss an alternative form of medication that has changed everything for Josh and his seizures: CBD, a chemical found in marijuana. There's lots to unpack in this episode. Josh is an angel and so is his mom for sharing their story. FOLLOW JENNA https://www.instagram.com/jennuh_leann/ FOLLOW US https://www.instagram.com/realmotherfuckerspodcast/ https://www.youtube.com/@RealMoFosPodcast https://patreon.com/RealMotherFuckersPodcast DISCLAIMER This podcast has mature language and content. Moms ears only — don't have this one on with your kids in the room. These are our opinions and experiences as moms, take what you like, or leave it. Don't be thinking we're telling you what to do. Seek professionals, do your research, and call the experts for help. --- Support this podcast: https://podcasters.spotify.com/pod/show/realmotherfuckers/support

Aurora Rustarazo, directora y psicóloga de la asociación 'Residencia Mil Diferencias´, nos habla sobre la enfermedad Prader Willi.

Hello Brave Friends! On this story episode we are exploring the vital yet (especially in our community) illusive act of taking a break. Our storyteller is Krysten Leighty whose daughter Lana, was diagnosed with Prader-Willi syndrome, and found early on that the “go go go” mentality of the medical world was counterintuitive to her instincts, as a mother, to just stop and be present with her child.Krysten Leighty is an artist of many talents, an ambivert, empath, a work in progress human, a partner in love and a wild mama inspired by nature and traveling the world. She is a fierce advocate for her beautiful daughter who just so happens to be rare.JOIN the international community of We Are Brave Together here.Donate to our Retreats and Respite Scholarships here.Donate to keep this podcast going here.Can't get enough of the Brave Together Podcast?Follow our Instagram Page @wearebravetogether or on Facebook.Feel free to contact Jessica Patay via email: jpatay@wearebravetogether.orgIf you have any topic requests or if you would like to share a story, leave us a message here.Please leave a review and rating today! We thank you in advance!Disclaimer

DiGeorge syndrome… what a complicated condition for such a little area of a single chromosome being affected. The condition's descriptive and preferred name is 22q11.2. This is called a microdeletion. Along with microduplications, microdeletions are collectively known as copy number variants. Copy number variants can lead to disease when the change in copy number of a dose-sensitive gene or genes disrupts the ability of the gene(s) to function and affects the amount of protein produced. Other examples of microdeletion syndromes include Prader- Willi, (which is a deletion on 15q), and Cri du chat syndrome which results from a microdeletion on 5p. In this episode, we will review the varied penetrance of DiGeorge syndrome and review its genetic basis. What are some suggestive features found on prenatal ultrasound? What are the associated abnormalities/phenotypes? And how is this condition managed after birth? And why is this also known as CATCH22. We will answer all of these questions, and more, in this episode.

Mike Cannon and Anthony Zenhauser join Luis J. Gomez and Zac Amico and discuss Luis learning about point-guarding, loving the kill in video games, Luis going to see Phantom of the Opera with Baby James, the first black actress playing Christine in the play, the mean stages of little girls, Rape Dicks - Mike Tyson getting accused of rape again, the 5 year old with Prader-Willi syndrome, the Historical Figures app that allows you to speak to dead historic figures and so much more!(Air Date: January 25th, 2023)Support our sponsors!YoDelta.com - Use promo code: GaS to get 25% off!To advertise your product or service on GaS Digital podcasts please go to TheADSide.com and click on "Advertisers" for more information!Submit your artwork via postal mail to:GaS Digital Networkc/o Real Ass Podcast151 1st Ave, #311New York, NY 10003Submit to be Luis' sparring partner by sending a video and your information to RealAssOfficial@gmail.com!Real Ass Podcast merchandise is available at https://podcastmerch.com/collections/real-ass-podcastYou can watch Real Ass Podcast LIVE for FREE every Monday, Wednesday and Friday at 11am ET at GaSDigitalNetwork.com/LIVEOnce you're there you can sign up at GaSDigitalNetwork.com with promo code: RAP for a 7-day FREE trial with access to every Real Ass Podcast show ever recorded! On top of that you'll also have the same access to ALL the shows that GaS Digital Network has to offer!Follow the whole show on social media!Mike CannonTwitter: https://twitter.com/IamMikeCannonInstagram: https://www.instagram.com/iammikecannonYouTube: https://www.youtube.com/@MikeCannonComedyAnthony ZenhauserTwitter: https://twitter.com/thezencomicInstagram: https://instagram.com/thezencomicYouTube: https://www.youtube.com/@zencomedy1979Luis J. GomezTwitter: https://twitter.com/luisjgomezInstagram: https://instagram.com/gomezcomedyYouTube: https://www.youtube.com/c/LuisJGomezComedyTwitch: https://www.twitch.tv/prrattlesnakeWebsite: https://www.luisofskanks.comZac AmicoTwitter: https://twitter.com/ZASpookShowInstagram: https://instagram.com/zacisnotfunnySee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.